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NM_030632.3(ASXL3):c.1977del (p.Asp660fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 26, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003325390.2

Allele description [Variation Report for NM_030632.3(ASXL3):c.1977del (p.Asp660fs)]

NM_030632.3(ASXL3):c.1977del (p.Asp660fs)

Gene:
ASXL3:ASXL transcriptional regulator 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_030632.3(ASXL3):c.1977del (p.Asp660fs)
HGVS:
  • NC_000018.10:g.33739381del
  • NG_055244.1:g.165805del
  • NM_030632.3:c.1977delMANE SELECT
  • NP_085135.1:p.Asp660fs
  • NC_000018.9:g.31319345del
  • NM_030632.1:c.1977del
Protein change:
D660fs
Molecular consequence:
  • NM_030632.3:c.1977del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004031384Molecular Genetics laboratory, Necker Hospital
no assertion criteria provided
Likely pathogenic
(Apr 26, 2018) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Molecular Genetics laboratory, Necker Hospital, SCV004031384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 9, 2023